The National MDS Natural History Study: design of an integrated data and sample biorepository to promote research studies in myelodysplastic syndromes

Abstract

Myelodysplastic syndromes (MDS), a spectrum of heterogeneous hematopoietic stem cell diseases, vary in clinical severity, response to therapy, and propensity toward progression to acute myeloid leukemia. These are acquired clonal disorders resulting from somatic mutations within the hematopoietic stem or progenitor cell population. Understanding the natural history and the risk of developing leukemia and other adverse outcomes is dependent on access to well-annotated biospecimens linked to robust clinical and molecular data. To facilitate the acquisition and distribution of MDS biospecimens to the wider scientific community and support scientific discovery in this disease, the National MDS Natural History study was initiated by the National Heart, Lung, and Blood Institute (NHLBI) and is being conducted in collaboration with community hospitals and academic medical centers supported by the National Cancer Institute (NCI). The study will recruit up to 2000 MDS patients or overlapping myeloproliferative neoplasms (MDS/MPN) and up to 500 cases of idiopathic cytopenia of undetermined significance (ICUS). The National MDS Natural History Study (NCT02775383) will offer the world’s largest disease-focused tissue biobank linked to longitudinal clinical and molecular data in MDS. Here, we report on the study design features and describe the vanguard phase of 200 cases. The study assembles a comprehensive clinical database, quality of life results, laboratory data, histopathology slides and images, genetic information, hematopoietic and germline tissues representing high-quality biospecimens and data from diverse centers across the United States. These resources will be available to the scientific community for investigator-initiated research.

Keywords:

• Myelodysplastic syndromes
• biorepository
• natural history
• quality of life

Acknowledgments

The National MDS Natural History Study has been supported by US Federal Government Contracts HHSN268201400003I and HHSN268201400002I from the National Heart, Lung, and Blood Institute and additional funding by the National Cancer Institute to the participating member clinical centers in the NCORP and NCTN. Many individuals from the biorepository and coordinating centers contributed. In addition, we specifically acknowledge collaborators in study development: Ling Zhang, Eric Padron, Jeff Painter, Steven Kroft, Alexandra Harrington, Worta McCaskill-Stevens, Deborah Pearson, David Cella, Paul Jacobsen, Mary Horowitz, Wael Saber, Jason Thompson, Johannes Goll, Benjamin Ebert, Jason Walker, Robert Fulton, Jaroslaw Maciejewski and Lindsley Coleman. The National MDS Natural History Study thanks the study participants, as well as the investigator teams at the participating clinical sites.

Potential conflict of interest

Disclosure forms provided by the authors are available with the full text of this article online at https://doi.org/10.1080/10428194.2019.1616186.